Indel markers: Genetic diversity of 38 polymorphisms in Brazilian populations and application in a paternity investigation with post mortem material
ABSTRACT Aiming to evaluate the usefulness of 38 non-coding bi-allelic autosomal indels in genetic identification and kinship testing, three Brazilian population samples were studied: two from Rio de Janeiro (including a sample of individuals with self-declared African ancestry) and one Native American population of Terena from Mato Grosso do Sul. Based on the observed allele frequencies, parameters of forensic relevance were calculated. The combined power of discrimination of the 38 indels was high in all studied groups (PD≥0.9999999999997), although slightly lower in Native Americans. Genetic distance analysis showed significant differences between the allele frequencies in the Rio de Janeiro population and those previously reported for Europeans, Africans and Asians explained by its intermediate position between Europeans and Africans. As expected, the Terena sample was significantly different from all the other populations: Brazilians from Rio de Janeiro general population and with self-declared African ancestry, Europeans, Africans and East Asians. Finally, the performance of the 38-indel multiplex assay was tested in post-mortem material with positive results, supporting the use of short amplicon bi-allelic markers as an additional tool to STR analysis when DNA molecules are degraded.
- SourceAvailable from: António AmorimForensic Science International: Genetics 04/2013; DOI:10.1016/j.fsigen.2013.03.009 · 3.20 Impact Factor
- Forensic Science International: Genetics 08/2013; 9. DOI:10.1016/j.fsigen.2013.07.013 · 3.20 Impact Factor
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ABSTRACT: Insertion/deletion (INDELs) marker sets can serve as a useful supplementary tool for human identification. A commercial kit, the Qiagen DIPplex(®) Investigator kit, multiplexes 30 biallelic autosomal INDELs and Amelogenin for forensic use. We performed a validation study based on the DIPplex(®) kit in four Chinese populations: Han, Tibetan, Uyghur, and Kazakh. There were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium (pair-wised r(2)<0.2) between the 30 INDELs. The random match probabilities were in the range of 3.84×10(-11) to 1.20×10(-12), and the power of exclusion was >0.99. The multiplex PCR was optimized for a 5-μL volume, full profiles were obtained with 0.062ng/μL of template DNA, and excellent performance was obtained with degraded casework samples. This study demonstrates that the multiplex INDEL assay can be used as a supplementary method for degraded DNA detection in the studied Chinese populations.Forensic Science International: Genetics 09/2013; 9. DOI:10.1016/j.fsigen.2013.09.002 · 3.20 Impact Factor